Selecting for BRCA1 testing using a combination of homogeneous selection criteria and immunohistochemical characteristics of breast cancers
GianMaria Miolo, Vincenzo Canzonieri, Clelia De Giacomi, Lara Della Puppa, Riccardo Dolcetti, Davide Lombardi, Tiziana Perin, Simona Scalone, Andrea Veronesi, Alessandra Viel
BMC CANCER | BMC | Published : 2009
BACKGROUND: BRCA1 gene-related tumours are more frequently estrogen receptor (ER) and progesterone receptor (PR) negative with a lower prevalence of human epidermal growth factor receptor 2 (HER2) overexpression or amplification. We evaluated the effectiveness of a combination of homogeneously selected criteria and immunohistochemical (IHC) characteristics of Familial Breast Cancers (FBCs) in detecting BRCA1 mutation carriers. METHODS: Primary breast tumours from 93 FBC patients defined by specific eligibility criteria, based on personal and familial tumour history, were evaluated by Allred's method. The BRCA1 molecular analysis, including Multiplex Ligation-dependent Probe Amplification (ML..View full abstract
The study was supported by funds from the Italian Ministry of Health, "Ricerca Corrente" programs and by Alleanza Contro il Cancro (funding given to AVi).